H. Hansíková

发表

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

R. Pfundt, C. Biot, R. Rodenburg, 2018, Human molecular genetics.

Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX.

J. Zeman, Z. Pakanová, T. Honzík, 2018, Metabolism: clinical and experimental.

Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment

J. Zeman, S. Kmoch, J. Houštěk, 2000, Journal of Inherited Metabolic Disease.

Activities of cytochrome c oxidase and citrate synthase in lymphocytes of obese and normal-weight subjects

J. Zeman, J. Houštěk, M. Kunesova, 2002, International Journal of Obesity.

Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1.

K. Vesela, M. Tesařová, J. Zeman, 2005, The Biochemical journal.

ORAL D-GALACTOSE SUPPLEMENTATION IN PGM1-CDG

M. He, C. Thiel, T. Gadomski, 2017, Genetics in Medicine.

Warburg Effect’s Manifestation in Aggressive Pheochromocytomas and Paragangliomas: Insights from a Mouse Cell Model Applied to Human Tumor Tissue

A. Tischler, H. Lehnert, A. Yergey, 2012, PloS one.

Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from α-mannosidosis patients

K. Vesela, M. Tesařová, J. Zeman, 2009, Biologia.

Huntingtin Co-Isolates with Small Extracellular Vesicles from Blood Plasma of TgHD and KI-HD Pig Models of Huntington’s Disease and Human Blood Plasma

J. Klempír, P. Vodička, J. Juhasova, 2022, International journal of molecular sciences.

A new case of ALG8 deficiency (CDG Ih)

T. Hennet, K. Vesela, J. Zeman, 2009, Journal of Inherited Metabolic Disease.

A transgenic minipig model of Huntington's Disease.

M. DiFiglia, L. Thompson, D. Howland, 2013, Journal of Huntington's disease.

Knockdown of human Oxa1l impairs the biogenesis of F1Fo-ATP synthase and NADH:ubiquinone oxidoreductase.

J. Zeman, H. Hansíková, L. Wenchich, 2007, Journal of molecular biology.

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase‐I deficiency

J. Vissing, C. Thiel, N. Voermans, 2018, Translational research : the journal of laboratory and clinical medicine.

Increased nuclear DNA damage precedes mitochondrial dysfunction in peripheral blood mononuclear cells from Huntington’s disease patients

J. Klempír, I. Lišková, M. Bjørås, 2018, Scientific Reports.

Cytochromes P450 2B1 and P450 2B2 demethylate N-nitrosodimethylamine and N-nitrosomethylaniline in vitro.

E. Frei, M. Stiborová, H. Hansíková, 1996, General physiology and biophysics.

Metabolism of carcinogenic N-nitroso-N-methylaniline by purified cytochromes P450 2B1 and P450 2B2.

E. Frei, M. Stiborová, H. Hansíková, 1996, Cancer letters.

A reconstituted cytochrome P450 system from tulip bulbs (Tulipa fosteriana L.) oxidizes xenobiotics

P. Anzenbacher, E. Frei, M. Stiborová, 1995 .

Isolation of plant cytochrome P-450 and NADPH: cytochrome P-450 reductase from tulip bulbs (Tulipa fosteriana L.) oxidizing xenobiotics.

P. Anzenbacher, E. Frei, M. Stiborová, 1994, General physiology and biophysics.

[Psychiatric disturbances in five patients with MELAS syndrome].

M. Tesařová, J. Zeman, V. Dvorakova, 2014, Psychiatria polska.

Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.

M. Michaelides, M. Tesařová, T. Honzík, 2019, Folia biologica.

Carnitine supplementation alleviates lipid metabolism derangements and protects against oxidative stress in non-obese hereditary hypertriglyceridemic rats.

H. Malínská, O. Oliyarnyk, L. Kazdová, 2015, Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolisme.

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction

V. Melenovský, M. Macek, J. Zeman, 2020, Journal of clinical medicine.

A transgenic minipig model of Huntington's disease shows early signs of behavioral and molecular pathologies

J. Klempír, M. Bjørås, A. Klungland, 2018, Disease Models & Mechanisms.

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

T. Wieland, T. Meitinger, T. Strom, 2012, Journal of Medical Genetics.

Postnatal induction of muscle fatty acid oxidation in mice differing in propensity to obesity: a role of pyruvate dehydrogenase

M. Rossmeisl, O. Kuda, J. Kopecký, 2018, International Journal of Obesity.

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

M. Tesařová, J. Zeman, M. Vaněčková, 2011, Prague medical report.

Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency

K. Vesela, M. Pronicki, M. Tesařová, 2006, Pediatric Research.

Congenital disorders of glycosylation: Still "hot" in 2020.

J. Jaeken, T. Honzík, H. Hansíková, 2020, Biochimica et biophysica acta. General subjects.

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.

M. Tesařová, J. Zeman, Karel Medek, 2017, Prague medical report.

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

A. Hoischen, J. Veltman, G. Matthijs, 2014, Brain : a journal of neurology.

Sideroblastic anemia associated with multisystem mitochondrial disorders

M. Tesařová, J. Zeman, J. Starý, 2018, Pediatric blood & cancer.

Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene

M. Tesařová, J. Zeman, L. Lambert, 2022, Clinical dysmorphology.

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

K. Vesela, M. Tesařová, J. Zeman, 2012, Journal of Inherited Metabolic Disease.

Mitochondrial organization and structure are compromised in fibroblasts from patients with Huntington’s disease

J. Roth, J. Klempír, J. Zeman, 2022, Ultrastructural pathology.

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I

M. Tesařová, J. Zeman, M. Vaněčková, 2020, BMC Pediatrics.

The developmental changes in mitochondrial DNA content per cell in human cord blood leukocytes during gestation.

M. Tesařová, J. Zeman, T. Honzík, 2008, Physiological research.

Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b.

J. Zeman, H. Hansíková, L. Wenchich, 2010, The Biochemical journal.

Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4 , 5 a , 6 a , 7 a and 7 b

J. Zeman, H. Hansíková, L. Wenchich, 2010 .

A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis.

J. Zeman, J. Houštěk, S. Williams, 2001, Molecular genetics and metabolism.

Mitochondrial Energy Metabolism in Very Premature Neonates

J. Zeman, J. Houštěk, W. Sperl, 2002, Neonatology.

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder

M. Votruba, M. Tesařová, O. Ulmanová, 2013, Acta ophthalmologica.

A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome

M. Tesařová, J. Zeman, T. Honzík, 2022, Genes.

Changes in transcription pattern lead to a marked decrease in COX, CS and SQR activity after the developmental point of the 22(nd) gestational week.

M. Tesařová, J. Zeman, T. Honzík, 2018, Physiological research.

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.

A. Pshezhetsky, E. Hamel, M. Tesařová, 2015, Brain : a journal of neurology.

The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues.

M. Tesařová, J. Zeman, T. Honzík, 2008, Biochimica et biophysica acta.

Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family

V. Kaplanová, J. Zeman, J. Houštěk, 2004, Journal of the Neurological Sciences.

Clinical Heterogeneity, Tissue Distribution, and Intergenerational Segregation of mtDNA Mutation A3243G

M. Tesařová, J. Zeman, J. Houštěk, 2004, Toxicology mechanisms and methods.

Polarographic evaluation of mitochondrial enzymes activity in isolated mitochondria and in permeabilized human muscle cells with inherited mitochondrial defects.

M. Tesařová, J. Zeman, J. Houštěk, 2003, Physiological research.

Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis

J. Zeman, H. Hansíková, L. Stiburek, 2018, International journal of molecular sciences.

Mitochondrial Dysfunction in a High Intraocular Pressure-Induced Retinal Ischemia Minipig Model

G. Petrovski, J. Čížková, J. Motlík, 2022, Biomolecules.

Novel mutations in the TAZ gene in patients with Barth syndrome.

M. Tesařová, J. Zeman, T. Honzík, 2013, Prague medical report.

Analysis of expression profiles of genes involved in F(o)F(1)-ATP synthase biogenesis during perinatal development in rat liver and skeletal muscle.

M. Tesařová, J. Zeman, A. Hruštincová, 2016, Physiological research.

Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review

K. Štěrbová, L. Sedláčková, M. Vlčková, 2021, neurogenetics.

Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay.

M. Tesařová, J. Zeman, T. Honzík, 2014, Folia biologica.

The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions

M. Tesařová, J. Zeman, J. Zamecnik, 2020, Brain sciences.

RFT1-CDG in adult siblings with novel mutations.

K. Vesela, J. Zeman, T. Honzík, 2012, Molecular genetics and metabolism.

New-Generation Heterocyclic Bis-Pentamethinium Salts as Potential Cytostatic Drugs with Dual IL-6R and Mitochondria-Targeting Activity

M. Masařík, K. Smetana, R. Kaplánek, 2022, Pharmaceutics.

Comparable respiratory activity in attached and suspended human fibroblasts

E. Gnaiger, H. Hansíková, L. Zdražilová, 2022, PloS one.

Loss of function of Sco1 and its interaction with cytochrome c oxidase.

J. Zeman, H. Hulkova, H. Hansíková, 2009, American journal of physiology. Cell physiology.

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

M. Tesařová, J. Zeman, S. Kmoch, 2010, Archives of Disease in Childhood.

N-Glycosylation Regulates the Trafficking and Surface Mobility of GluN3A-Containing NMDA Receptors

Young Ho Suh, M. Zapotocky, Y. H. Suh, 2018, Front. Mol. Neurosci..

Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial Disorders

M. Capek, M. Tesařová, J. Zeman, 2015, Ultrastructural pathology.

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

E. Holme, J. Zeman, J. Houštěk, 2006, Neuromuscular Disorders.

Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control.

M. Tesařová, J. Zeman, Václav Martínek, 2021, Biochimica et biophysica acta. Molecular basis of disease.

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature

M. Tesařová, J. Zeman, J. Zamecnik, 2016, Cardiology in the Young.

Biogenesis of eukaryotic cytochrome c oxidase.

M. Tesařová, J. Zeman, H. Hansíková, 2006, Physiological research.

CYTOCHROME C OXIDASE DEFICIENCY IN CHILDHOOD

M. Tesařová, J. Zeman, E. Pronicka, 2008 .

Genetic defects of cytochrome c oxidase assembly.

J. Zeman, J. Houštěk, P. Pecina, 2004, Physiological research.

Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome.

J. Zeman, J. Houštěk, C. Godinot, 2003, Biochimica et biophysica acta.

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.

W. Sessa, K. Hodaňová, H. Hartmannová, 2014, Cell metabolism.

High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency

Katerina Vesela, Hana Hansikova, Jiri Zeman, 2012, Journal of Human Genetics.

Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars

Ryan L. Collins, J. Gusella, R. Collins, 2016, Neurodegenerative Diseases.

Additional file 14

S. Seneca, P. Divina, M. Tesařová, 2012 .

Loss of function of Sco 1 and its interaction with cytochrome c oxidase

J. Zeman, H. Hulkova, H. Hansíková, 2009 .

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I

Machiko Kadoya, Y. Wada, R. Wevers, 2011, Journal of Inherited Metabolic Disease.

Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development.

M. Tesařová, V. Havlíčková, J. Zeman, 2010, Mitochondrion.

Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review

K. Štěrbová, L. Sedláčková, M. Vlčková, 2021, neurogenetics.

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders

M. Tesařová, H. Kratochvílová, J. Zeman, 2013, European Journal of Human Genetics.

Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene

J. Zeman, M. Elleder, H. Hulkova, 2008, APMIS : acta pathologica, microbiologica, et immunologica Scandinavica.

Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene

M. Tesařová, J. Zeman, J. Houštěk, 2004, Acta paediatrica.

Mitochondrial Dysfunction in Blood Platelets of Patients with Manic Episode of Bipolar Disorder.

Z. Fišar, J. Raboch, H. Hansíková, 2019, CNS & neurological disorders drug targets.

Increased nuclear DNA damage precedes mitochondrial dysfunction in peripheral blood mononuclear cells from Huntington’s disease patients

J. Klempír, I. Lišková, M. Bjørås, 2018, Scientific Reports.

Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.

J. Zeman, S. Kmoch, H. Hansíková, 2001, Medical science monitor : international medical journal of experimental and clinical research.

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

K. Hejzlarová, M. Tesařová, M. Vrbacký, 2008, Nature Genetics.

Molecular Genetics and Metabolism

J. Zeman, T. Honzík, H. Hansíková, 2012 .

Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA.

J. Zeman, J. Houštěk, H. Hansíková, 1995, Biochimica et biophysica acta.

Stable COX17 Downregulation Leads to Alterations in Mitochondrial Ultrastructure, Decreased Copper Content and Impaired Cytochrome c Oxidase Biogenesis in HEK293 Cells.

J. Zeman, H. Hansíková, L. Stiburek, 2019, Folia biologica.

Activities of respiratory chain complexes and pyruvate dehydrogenase in isolated muscle mitochondria in premature neonates.

J. Zeman, T. Honzík, H. Hansíková, 2008, Early human development.

An investigation of the metabolism of N-nitrosodimethylamine and N-nitrosomethylaniline by horseradish peroxidase in vitro.

E. Frei, M. Stiborová, H. Schmeiser, 1997, General physiology and biophysics.

Mitochondrial Metabolism in a Large-Animal Model of Huntington Disease: The Hunt for Biomarkers in the Spermatozoa of Presymptomatic Minipigs

J. Zeman, D. Howland, J. Motlík, 2017, Neurodegenerative Diseases.

The phenotypic spectrum of fifty Czech m.3243A>G carriers.

M. Tesařová, J. Zeman, V. Dvorakova, 2016, Molecular genetics and metabolism.

C04 Reproductive parameters and mitochondrial function in spermatozoa of F1 and F2 minipig boars transgenic for n-terminal part of the human mutated huntingtin

J. Zeman, J. Motlík, J. Juhasova, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation

H. Freeze, Christina Lam, L. Wolfe, 2023, Journal of inherited metabolic disease.

Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency

A. Baxova, M. Tesařová, J. Zeman, 2020, The Journal of dermatology.

A novel deficiency of mitochondrial ATPase of nuclear origin.

H. Antonicka, J. Zeman, S. Kmoch, 1999, Human molecular genetics.

Mitochondrial Respiration in the Platelets of Patients with Alzheimer's Disease.

J. Zeman, P. Martásek, Z. Fišar, 2016, Current Alzheimer research.

Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry

M. Tesařová, J. Zeman, J. Houštěk, 2014, BBA clinical.

Fumaric aciduria: Mild phenotype in a 8-year-old girl with novel mutations

M. Tesařová, J. Zeman, I. Barić, 2006, Journal of Inherited Metabolic Disease.

A new role for dolichol isoform profile in the diagnostics of CDG disorders.

T. Honzík, H. Hansíková, N. Ondrušková, 2020, Clinica chimica acta; international journal of clinical chemistry.

Activities of respiratory chain complexes in isolated platelets in females with anorexia nervosa.

J. Zeman, H. Hansíková, L. Wenchich, 2007, The International journal of eating disorders.

Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male.

P. Kuchynka, M. Tesařová, J. Zeman, 2012, International heart journal.

TMEM70 deficiency: long-term outcome of 48 patients

E. Bertini, H. Mandel, S. Rahman, 2015, Journal of Inherited Metabolic Disease.

Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency.

M. Tesařová, J. Zeman, T. Honzík, 2012, Prague medical report.

The relationship of mitochondrial dysfunction and the development of insulin resistance in Cushing’s syndrome

J. Zeman, M. Haluzík, V. Hána, 2019, Diabetes, metabolic syndrome and obesity : targets and therapy.

Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206.

M. Tesařová, V. Kaplanová, J. Zeman, 2004, The Biochemical journal.

Mitophagy in Huntington's disease

H. Hansíková, K. Kepková, P. Vodička, 2019, Neurochemistry International.

Disturbances of mitochondrial parameters to distinguish patients with depressive episode of bipolar disorder and major depressive disorder

Z. Fišar, J. Raboch, H. Hansíková, 2019, Neuropsychiatric disease and treatment.

[Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome].

J. Zeman, J. Houštěk, E. Hrubá, 1999, Casopis lekaru ceskych.

Deterioration of mitochondrial bioenergetics and ultrastructure impairment in skeletal muscle of a transgenic minipig model in the early stages of Huntington's disease

J. Zeman, L. Eide, J. Motlík, 2019, Disease Models & Mechanisms.

Skeletal muscle in an early manifest transgenic minipig model of Huntington's disease revealed deterioration of mitochondrial bioenergetics and ultrastructure impairment.

J. Zeman, L. Eide, J. Motlík, 2019, Disease models & mechanisms.

Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.

M. Tesařová, H. Kratochvílová, J. Zeman, 2013, Molecular genetics and metabolism.

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

J. Zeman, M. Elleder, T. Honzík, 2012, Molecular genetics and metabolism.

Severe phenotype of ATP6AP1‐CDG in two siblings with a novel mutation leading to a differential tissue‐specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation

M. Tesařová, J. Zeman, T. Honzík, 2020, Journal of inherited metabolic disease.

The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits.

J. Zeman, J. Houštěk, H. Hansíková, 2016, The Biochemical journal.

Activities of mitochondrial respiratory chain complexes in platelets of patients with Alzheimer's disease and depressive disorder.

J. Zeman, Z. Fišar, J. Raboch, 2019, Mitochondrion.

Contiguous X-chromosome Deletion Syndrome Encompassing the BTK, TIMM8A, TAF7L, and DRP2 Genes

H. Ochs, K. Sullivan, A. Šedivá, 2007, Journal of Clinical Immunology.

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

T. Honzík, P. Lišková, H. Hansíková, 2021, BMC Ophthalmology.

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Ellen F. Macnamara, E. Eklund, C. Toro, 2021, Brain : a journal of neurology.

Microarray and qPCR Analysis of Mitochondrial Metabolism Activation during Prenatal and Early Postnatal Development in Rats and Humans with Emphasis on CoQ10 Biosynthesis

P. Mlejnek, M. Tesařová, J. Zeman, 2021, Biology.

M. Skopkova, D. Gašperíková, M. Karhanek, 2023, Orphanet Journal of Rare Diseases.

Large heterozygous deletions on 22q13.33 in combination with TYMP or SCO2 point mutations in two patients with mitochondrial disorders

M. Tesařová, J. Zeman, V. Stránecký, 2012 .

Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.

Andreas Hecker, J. Okun, G. Poschet, 2023, Molecular genetics and metabolism.

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency

S. Seneca, P. Divina, M. Tesařová, 2008, BMC Genomics.

Ultrastructural Changes of Mitochondria in the Cultivated Skin Fibroblasts of Patients with Point Mutations in Mitochondrial DNA

M. Tesařová, J. Zeman, M. Elleder, 2006, Ultrastructural pathology.

Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG.

N. Himmelreich, T. Honzík, H. Hansíková, 2023, Molecular genetics and metabolism.

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.

M. Tesařová, J. Zeman, T. Honzík, 2014, Neuro endocrinology letters.

Carnitine concentrations in term and preterm newborns at birth and during the first days of life.

J. Zeman, T. Honzík, H. Hansíková, 2005, Prague medical report.

The effect of very-low-calorie diet on mitochondrial dysfunction in subcutaneous adipose tissue and peripheral monocytes of obese subjects with type 2 diabetes mellitus.

M. Haluzík, M. Mráz, Z. Lacinová, 2017, Physiological research.

LACE1 interacts with p53 and mediates its mitochondrial translocation and apoptosis

J. Zeman, J. Houštěk, H. Hansíková, 2016, Oncotarget.

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report

O. Slabý, P. Jabandžiev, P. Kleiblova, 2020, Frontiers in Genetics.

Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes

M. Tesařová, Václav Martínek, T. Honzík, 2023, Frontiers in Genetics.

Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances.

J. Zeman, M. Matoulek, T. Honzík, 2015, Prague medical report.

Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5

M. Tesařová, J. Zamecnik, T. Honzík, 2016, Ophthalmic genetics.

Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene

M. Tesařová, H. Hansíková, J. Zeman, 2004, Acta paediatrica.

[A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome].

J. Zeman, J. Houštěk, C. Godinot, 2002, Casopis lekaru ceskych.

[Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families].

A. Hlavatá, M. Tesařová, J. Zeman, 2002, Casopis lekaru ceskych.

A transgenic minipig model of Huntington's Disease.

L. Thompson, D. Howland, A. Miyanohara, 2013, Journal of Huntington's disease.

Buccal Respiratory Chain Complexes I and IV Quantities in Huntington's Disease Patients.

J. Roth, J. Klempír, J. Zeman, 2018, Folia biologica.

Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars

Ryan L. Collins, J. Gusella, M. Talkowski, 2016, Neurodegenerative Diseases.

Mitophagy in Huntington's disease

H. Hansíková, K. Kepková, P. Vodička, 2021, Neurochemistry International.

Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances.

J. Zeman, M. Matoulek, T. Honzík, 2015, Prague medical report.

Molecular Genetics and Metabolism

P. Lapunzina, J. Nevado, C. Pérez-Cerdá, 2012 .

Additional file 12

John Herbert, Francesca M. Buffa, Henrik Vorschmitt, 2008 .

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

A. Hoischen, J. Veltman, G. Matthijs, 2014, Brain : a journal of neurology.